Familial Hirschsprung Disease
Gene: ELP1EnsemblGeneIds (GRCh38): ENSG00000070061
EnsemblGeneIds (GRCh37): ENSG00000070061
OMIM: 603722, Gene2Phenotype
ELP1 is in 8 panels
2 reviews
Erwin Brosens (Erasmus MC)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked IKBKAP as ready: August 3rd 2017. Red review plus no direct evidence for role of IKBKAP in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.Created: 3 Aug 2017, 10:28 a.m.
Associated with risk of HSCR. PMID:25717236 show that in Zebrafish, ELP1 (IKBKAP) knockdown results in a HSCR-like phenotype (aganglionosis and a reduced number of enteric neurons).Created: 5 Jun 2017, 1:41 p.m.
Added new-gene-name tag: current HGNC symbol is ELP1.Created: 5 Jun 2017, 1:39 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- risk of HSCR
- Hirschsprung disease (HSCR)
- OMIM
- 603722
- Clinvar variants
- Variants in ELP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Changed Gene Name
GEL ()IKBKAP was changed to ELP1
Removed Tag
GEL ()new-gene-name was removed from IKBKAP. Panel: Familial Hirschsprung Disease
panel promoted to version 1
Rebecca Foulger (Genomics England curator)18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for IKBKAP was changed to Unknown
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Changed Gene Name
Rebecca Foulger (Genomics England curator)ELP1* was changed to IKBKAP
Created
Rebecca Foulger (Genomics England curator)ELP1* was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)ELP1* was added to Familial Hirschsprung Diseasepanel. Sources: Literature